Canonical Allele Identifier: CA11298876

Gene: MATN3 WDR35-DT

Linked Data

• dbSNP Id: rs10495701
• gnomAD v2: 2-20197851-A-T
• gnomAD v3: 2-19998090-A-T
• gnomAD v4: 2-19998090-A-T
• MyVariant Identifiers: chr2:g.20197851A>T (hg19) ; chr2:g.19998090A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.19998090A>T , CM000664.2:g.19998090A>T	GRCh38
NC_000002.11:g.20197851A>T , CM000664.1:g.20197851A>T	GRCh37
NC_000002.10:g.20061332A>T	NCBI36
NG_008087.1:g.19605T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407540.8:c.1169-831T>A (MATN3) MANE Select	ENSP00000383894.3:n.1169-831T>A
ENST00000407540.7:c.1169-831T>A (MATN3)	ENSP00000383894.3:n.1169-831T>A
ENST00000421259.2:c.1043-831T>A (MATN3)	ENSP00000398753.2:n.1043-831T>A
NM_002381.4:c.1169-831T>A (MATN3)	NP_002372.1:n.1169-831T>A
NR_110235.1:n.292-1116A>T (WDR35-DT)
NM_002381.5:c.1169-831T>A (MATN3) MANE Select	NP_002372.1:n.1169-831T>A